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STX18 syntaxin 18 [ Homo sapiens (human) ]

Gene ID: 53407, updated on 11-Sep-2019

Summary

Official Symbol
STX18provided by HGNC
Official Full Name
syntaxin 18provided by HGNC
Primary source
HGNC:HGNC:15942
See related
Ensembl:ENSG00000168818 MIM:606046
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Ufe1
Summary
This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in endometrium (RPKM 20.8), skin (RPKM 17.0) and 25 other tissues See more
Orthologs

Genomic context

See STX18 in Genome Data Viewer
Location:
4p16.3-p16.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (4418968..4542343, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4420695..4543775, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268462 Neighboring gene uncharacterized LOC107986253 Neighboring gene neuronal vesicle trafficking associated 1 Neighboring gene STX18 intronic transcript 1 Neighboring gene VISTA enhancer hs746 Neighboring gene uncharacterized LOC107986254 Neighboring gene ribosomal protein S7 pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 11878 Neighboring gene STX18 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC101928237 Neighboring gene NFE2L2 motif-containing MPRA enhancer 85

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
NHGRI GWA Catalog

Pathways from BioSystems

  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • SNARE interactions in vesicular transport, organism-specific biosystem (from KEGG)
    SNARE interactions in vesicular transport, organism-specific biosystem
    SNARE interactions in vesicular transport
  • SNARE interactions in vesicular transport, conserved biosystem (from KEGG)
    SNARE interactions in vesicular transport, conserved biosystem
    SNARE interactions in vesicular transport
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686O15149

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNAP receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endoplasmic reticulum membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
membrane fusion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of organelle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
syntaxin-18
Names
cell growth-inhibiting gene 9 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001346281.2NP_001333210.1  syntaxin-18 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB028741, AC110814, AL832867, AW953241, DB458668
    UniProtKB/Swiss-Prot
    Q9P2W9
  2. NM_001346282.2NP_001333211.1  syntaxin-18 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB028741, AL832867, CN364605
    UniProtKB/Swiss-Prot
    Q9P2W9
    Conserved Domains (2) summary
    cd15850
    Location:165223
    SNARE_syntaxin18; SNARE motif, subgroup Qa
    pfam05104
    Location:62132
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
  3. NM_001346300.1NP_001333229.1  syntaxin-18 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB028741, AC110814, AL832867, BP309333
    UniProtKB/Swiss-Prot
    Q9P2W9
    Conserved Domains (2) summary
    cd15850
    Location:165223
    SNARE_syntaxin18; SNARE motif, subgroup Qa
    pfam05104
    Location:62132
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
  4. NM_016930.4NP_058626.1  syntaxin-18 isoform 1

    See identical proteins and their annotated locations for NP_058626.1

    Status: REVIEWED

    Source sequence(s)
    AB028741, AL832867, DB458668
    Consensus CDS
    CCDS3377.1
    UniProtKB/Swiss-Prot
    Q9P2W9
    Related
    ENSP00000305810.2, ENST00000306200.7
    Conserved Domains (3) summary
    cd15850
    Location:246304
    SNARE_syntaxin18; SNARE motif, subgroup Qa
    pfam05104
    Location:143213
    Rib_recp_KP_reg; Ribosome receptor lysine/proline rich region
    pfam10496
    Location:496
    Syntaxin-18_N; SNARE-complex protein Syntaxin-18 N-terminus

RNA

  1. NR_144414.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB028741, AL832867, AW953241, DB458668

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    4418968..4542343 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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